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TTTGGGTCAGGGGTGGCTGGCTCAC[A/G]AGGTTTGGTCCAACCAGCAGAACCA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 604028 | |||||||||||||||||||||||
Literature Links: |
SEC22C PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
SEC22C - SEC22 homolog C, vesicle trafficking protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001201572.1 | 897 | Missense Mutation | TCG,TTG | S,L 250 | NP_001188501.1 | |
NM_001201584.1 | 897 | Missense Mutation | TCG,TTG | S,L 228 | NP_001188513.1 | |
NM_004206.3 | 897 | Missense Mutation | TCG,TTG | S,L 250 | NP_004197.1 | |
NM_032970.3 | 897 | UTR 3 | NP_116752.1 | |||
XM_005265533.1 | 897 | UTR 3 | XP_005265590.1 | |||
XM_005265534.1 | 897 | UTR 3 | XP_005265591.1 | |||
XM_005265535.1 | 897 | UTR 3 | XP_005265592.1 | |||
XM_011534212.1 | 897 | UTR 3 | XP_011532514.1 | |||
XM_017007438.1 | 897 | Missense Mutation | TCG,TTG | S,L 180 | XP_016862927.1 | |
XM_017007439.1 | 897 | Missense Mutation | TCG,TTG | S,L 180 | XP_016862928.1 |